Project HERA

SMAD4 variants

Every SMAD4 variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.

7 variants

SMAD4 variants

Newest first. Each row opens the full report, criterion by criterion.

7 shown

Variant

Protein change

Classification

SMAD4 NM_005359.6:c.454+23C>T

NP_005350.1:p.?

SMAD4 NM_005359.6:c.454+23C>T

NP_005350.1:p.?

SMAD4 NM_005359.6:c.463A>G

NP_005350.1:p.(S155G)

SMAD4 NM_005359.5:c.1082G>A

NP_005350.1:p.(R361H)

SMAD4 NM_005359.5:c.1081C>G

NP_005350.1:p.(R361G)

SMAD4 NM_005359.5:c.1081C>A

NP_005350.1:p.(R361S)

Likely Pathogenic

SMAD4 NM_005359.5:c.1067C>T

NP_005350.1:p.(P356L)